Bioinformatics · 2019 · 496 citations · 18 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomicsStatistical GeneticsGenome-wide Association StudiesGenotype-phenotype Association AnalysisVariant AnalysisVariant DetectionConditional Heteroskedasticity ModelsGenotype Association AnalysisGenotype Data AnalysisHeteroscedastic Variance ComponentsHeteroskedasticity ModelingLink FunctionsMixed Genetic ModelsVariance Components Analysis
SUMMARY: The Genomic Data Storage (GDS) format provides efficient storage and retrieval of genotypes measured by microarrays and sequencing. We developed GENESIS to perform various single- and aggregate-variant association tests using genotype data stored in GDS format. GENESIS implements highly flexible mixed models, allowing for different link functions, multiple variance components and phenotypic heteroskedasticity. GENESIS integrates cohesively with other R/Bioconductor packages to build a complete genomic analysis workflow entirely within the R environment. AVAILABILITY AND IMPLEMENTATION: https://bioconductor.org/packages/GENESIS; vignettes included. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text